Canonical Allele Identifier: CA2695215161
Gene: TYR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89178520_89178524del , CM000673.2:g.89178520_89178524del GRCh38
NC_000011.9:g.88911688_88911692del , CM000673.1:g.88911688_88911692del GRCh37
NC_000011.8:g.88551336_88551340del NCBI36
NG_008748.1:g.5649_5653del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.567_571del MANE Select ENSP00000263321.4:p.Gly190IlefsTer2
ENST00000263321.5:c.567_571del ENSP00000263321.4:p.Gly190IlefsTer2
ENST00000526139.1:n.628_632del
NM_000372.4:c.567_571del NP_000363.1:p.Gly190IlefsTer2
XM_011542970.1:c.567_571del XP_011541272.1:p.Gly190IlefsTer2
XM_011542970.2:c.567_571del XP_011541272.1:p.Gly190IlefsTer2
XR_001748321.1:n.2718-64991_2718-64987del
XR_001748322.1:n.2733-64991_2733-64987del
NM_000372.5:c.567_571del MANE Select NP_000363.1:p.Gly190IlefsTer2